Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32169847C>T , CM000669.2:g.32169847C>T | GRCh38 |
| NC_000007.13:g.32209459C>T , CM000669.1:g.32209459C>T | GRCh37 |
| NC_000007.12:g.32175984C>T | NCBI36 |
| NG_051183.1:g.263378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396193.5:c.246G>A | ENSP00000379496.1:p.Glu82= | |
| NM_001191058.2:c.246G>A | NP_001177987.2:p.Glu82= | |
| XM_005249768.3:c.246G>A | XP_005249825.2:p.Glu82= | |
| XM_011515410.1:c.246G>A | XP_011513712.1:p.Glu82= | |
| XM_011515411.1:c.246G>A | XP_011513713.1:p.Glu82= | |
| XM_011515414.1:c.246G>A | XP_011513716.1:p.Glu82= | |
| NM_001191058.3:c.246G>A | NP_001177987.2:p.Glu82= | |
| NM_001322058.1:c.246G>A | NP_001308987.1:p.Glu82= | |
| NM_001322059.1:c.471G>A | NP_001308988.1:p.Glu157= | |
| XM_017012264.1:c.351G>A | XP_016867753.1:p.Glu117= | |
| XM_017012265.1:c.186G>A | XP_016867754.1:p.Glu62= | |
| XM_017012266.1:c.351G>A | XP_016867755.1:p.Glu117= | |
| XR_001744802.1:n.366G>A | ||
| XR_001744803.1:n.366G>A | ||
| XR_001744804.1:n.366G>A | ||
| XR_001744805.1:n.366G>A | ||
| NM_001191058.4:c.246G>A | NP_001177987.2:p.Glu82= | |
| NM_001322058.2:c.246G>A | NP_001308987.1:p.Glu82= | |
| NM_001322059.2:c.471G>A | NP_001308988.1:p.Glu157= |